Source:http://linkedlifedata.com/resource/pubmed/id/11858490
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2002-2-22
|
| pubmed:abstractText |
The molecular basis of Factor V deficiency has been defined in few patients only. We report a homozygous nucleotide change (G6395A) in two Tunisian probands with Factor V deficiency and bleeding episodes. This substitution results in the replacement of an arginine (R) by a histidine (H) in amino acid position 2074, located in the Factor V C2-domain. Mutations in this protein domain have not previously been described. Several lines of evidence support that this sequence variant is indeed disease causing: 1) Crystal structures of Factor V and molecular C2-domain modeling studies of H2074 suggest that the conserved R2074 is required for correct folding; 2) Structure-function studies of selective Factor V mutants (R2074A) demonstrate the importance of R2074 for structural stability of the Factor V C2-domain and for cofactor activity (1); 3) In Factor VIII, point mutations in codon 2209, which corresponds to position 2074 in Factor V, cause hemophilia A.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
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| pubmed:issn |
0340-6245
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
87
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
294-9
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| pubmed:dateRevised |
2005-11-16
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| pubmed:meshHeading |
pubmed-meshheading:11858490-Amino Acid Sequence,
pubmed-meshheading:11858490-Amino Acid Substitution,
pubmed-meshheading:11858490-Consanguinity,
pubmed-meshheading:11858490-Diseases in Twins,
pubmed-meshheading:11858490-Factor V,
pubmed-meshheading:11858490-Factor V Deficiency,
pubmed-meshheading:11858490-Female,
pubmed-meshheading:11858490-Humans,
pubmed-meshheading:11858490-Male,
pubmed-meshheading:11858490-Models, Molecular,
pubmed-meshheading:11858490-Molecular Sequence Data,
pubmed-meshheading:11858490-Mutation, Missense,
pubmed-meshheading:11858490-Pedigree,
pubmed-meshheading:11858490-Point Mutation,
pubmed-meshheading:11858490-Protein Conformation,
pubmed-meshheading:11858490-Protein Structure, Tertiary,
pubmed-meshheading:11858490-Sequence Alignment,
pubmed-meshheading:11858490-Tunisia
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding.
|
| pubmed:affiliation |
Department of Pathology, Stanford University School of Medicine, CA 94305, USA.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|